ClinVar Miner

Variants with conflicting interpretations studied for Carnitine palmitoyltransferase II deficiency

Coded as:
Minimum review status of the submission for Carnitine palmitoyltransferase II deficiency: Collection method of the submission for Carnitine palmitoyltransferase II deficiency:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
740 105 0 9 32 0 7 47

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All conditions
Carnitine palmitoyltransferase II deficiency pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 4 3 0 0
likely pathogenic 4 0 4 0 0
uncertain significance 2 4 0 30 3
likely benign 0 0 30 0 5
benign 0 0 3 5 0

Condition to condition summary #

Total conditions: 3
Download table as spreadsheet
Condition Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
Carnitine palmitoyltransferase II deficiency 741 105 0 9 32 0 6 46
Carnitine palmitoyl transferase II deficiency, severe infantile form; Carnitine palmitoyl transferase II deficiency, neonatal form 0 4 0 3 0 0 0 3
Carnitine palmitoyl transferase II deficiency, severe infantile form; Carnitine palmitoyl transferase II deficiency, myopathic form; Carnitine palmitoyl transferase II deficiency, neonatal form 0 1 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 47
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000098.3(CPT2):c.1055T>G (p.Phe352Cys) rs2229291 0.01469
NM_000098.3(CPT2):c.1578T>C (p.Gly526=) rs113493395 0.00455
NM_000098.3(CPT2):c.1763C>G (p.Ser588Cys) rs1871748 0.00353
NM_000098.3(CPT2):c.1806T>C (p.Phe602=) rs147953465 0.00245
NM_000098.3(CPT2):c.1025T>C (p.Met342Thr) rs144658100 0.00110
NM_000098.3(CPT2):c.321A>G (p.Lys107=) rs147846614 0.00045
NM_000098.3(CPT2):c.1477G>A (p.Ala493Thr) rs61731996 0.00038
NM_000098.3(CPT2):c.1941G>A (p.Met647Ile) rs78266699 0.00038
NM_000098.3(CPT2):c.588T>C (p.Pro196=) rs140853350 0.00035
NM_000098.3(CPT2):c.500G>A (p.Arg167Gln) rs144760921 0.00028
NM_000098.3(CPT2):c.1519G>A (p.Val507Ile) rs142600166 0.00024
NM_000098.3(CPT2):c.912G>T (p.Gln304His) rs141553491 0.00022
NM_000098.3(CPT2):c.1943T>C (p.Phe648Ser) rs138125299 0.00020
NM_000098.3(CPT2):c.1914A>G (p.Gln638=) rs903915351 0.00014
NM_000098.3(CPT2):c.406G>T (p.Ala136Ser) rs554813467 0.00014
NM_000098.3(CPT2):c.45G>T (p.Ala15=) rs761850684 0.00011
NM_000098.3(CPT2):c.1436A>T (p.Tyr479Phe) rs749895856 0.00010
NM_000098.3(CPT2):c.1202G>T (p.Ser401Ile) rs146670074 0.00007
NM_000098.3(CPT2):c.846C>T (p.Pro282=) rs138855128 0.00007
NM_000098.3(CPT2):c.84C>T (p.Gly28=) rs772541454 0.00007
NM_000098.3(CPT2):c.1737C>T (p.Tyr579=) rs957344521 0.00006
NM_000098.3(CPT2):c.359A>G (p.Tyr120Cys) rs121918528 0.00006
NM_000098.3(CPT2):c.614A>G (p.Tyr205Cys) rs779525393 0.00006
NM_000098.3(CPT2):c.692G>A (p.Arg231Gln) rs369369333 0.00006
NM_000098.3(CPT2):c.877A>G (p.Ser293Gly) rs145237292 0.00006
NM_000098.3(CPT2):c.1335C>T (p.Cys445=) rs143075786 0.00005
NM_000098.3(CPT2):c.1645+15G>T rs753344588 0.00004
NM_000098.3(CPT2):c.691C>T (p.Arg231Trp) rs373638740 0.00004
NM_000098.3(CPT2):c.721A>G (p.Arg241Gly) rs200252755 0.00004
NM_000098.3(CPT2):c.852C>T (p.Pro284=) rs138575554 0.00003
NM_000098.3(CPT2):c.887G>A (p.Arg296Gln) rs764849762 0.00003
NM_000098.3(CPT2):c.985G>T (p.Asp329Tyr) rs750191719 0.00003
NM_000098.3(CPT2):c.1404G>A (p.Gln468=) rs140771069 0.00002
NM_000098.3(CPT2):c.1460A>C (p.Glu487Ala) rs368132822 0.00002
NM_000098.3(CPT2):c.340+10C>G rs781682674 0.00002
NM_000098.3(CPT2):c.1115A>G (p.His372Arg) rs1212235186 0.00001
NM_000098.3(CPT2):c.1233G>A (p.Thr411=) rs112914907 0.00001
NM_000098.3(CPT2):c.1476C>T (p.Ala492=) rs548364005 0.00001
NM_000098.3(CPT2):c.1507C>T (p.Arg503Cys) rs74315296 0.00001
NM_000098.3(CPT2):c.1536C>T (p.Cys512=) rs199573389 0.00001
NM_000098.3(CPT2):c.1665C>G (p.His555Gln) rs1557719450 0.00001
NM_000098.3(CPT2):c.36G>C (p.Arg12=) rs1350688021 0.00001
NM_000098.3(CPT2):c.481C>T (p.Arg161Trp) rs756839691 0.00001
NM_000098.3(CPT2):c.1041C>T (p.Gly347=) rs985374504
NM_000098.3(CPT2):c.1569_1570del (p.His523fs) rs1572385947
NM_000098.3(CPT2):c.448A>G (p.Thr150Ala) rs141505320
NM_000098.3(CPT2):c.852del (p.Glu285fs) rs1057517729

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